The Hedgehog signaling pathway plays an important role in early human development. The pathway is a signaling cascade that plays a role in pattern formation and cellular proliferation during development. This gene encodes a negative regulator of the hedgehog signaling pathway. Defects in this gene are a cause of medulloblastoma. Alternative splicing results in multiple transcri... See more...

Aliases for SUFU Gene

Aliases for SUFU Gene

  • SUFU Negative Regulator Of Hedgehog Signaling 2 3 5
  • Suppressor Of Fused Homolog 3 4
  • SUFUH 3 4
  • Suppressor Of Fused Homolog (Drosophila) 2
  • PRO1280 3
  • JBTS32 3
  • SUFUXL 3

External Ids for SUFU Gene

Previous GeneCards Identifiers for SUFU Gene

  • GC10P103156
  • GC10P103497
  • GC10P104394
  • GC10P103928
  • GC10P104253
  • GC10P097897

Summaries for SUFU Gene

Entrez Gene Summary for SUFU Gene

  • The Hedgehog signaling pathway plays an important role in early human development. The pathway is a signaling cascade that plays a role in pattern formation and cellular proliferation during development. This gene encodes a negative regulator of the hedgehog signaling pathway. Defects in this gene are a cause of medulloblastoma. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]

CIViC Summary for SUFU Gene

GeneCards Summary for SUFU Gene

SUFU (SUFU Negative Regulator Of Hedgehog Signaling) is a Protein Coding gene. Diseases associated with SUFU include Joubert Syndrome 32 and Basal Cell Nevus Syndrome. Among its related pathways are ERK Signaling and Hedgehog signaling events mediated by Gli proteins. Gene Ontology (GO) annotations related to this gene include protein kinase binding and obsolete signal transducer activity.

UniProtKB/Swiss-Prot Summary for SUFU Gene

  • Negative regulator in the hedgehog/smoothened signaling pathway (PubMed:10559945, PubMed:10564661, PubMed:10806483, PubMed:12068298, PubMed:12975309, PubMed:27234298, PubMed:15367681, PubMed:22365972, PubMed:24217340, PubMed:24311597, PubMed:28965847). Down-regulates GLI1-mediated transactivation of target genes (PubMed:15367681, PubMed:24217340, PubMed:24311597). Down-regulates GLI2-mediated transactivation of target genes (PubMed:24311597, PubMed:24217340). Part of a corepressor complex that acts on DNA-bound GLI1. May also act by linking GLI1 to BTRC and thereby targeting GLI1 to degradation by the proteasome (PubMed:10559945, PubMed:10564661, PubMed:10806483, PubMed:24217340). Sequesters GLI1, GLI2 and GLI3 in the cytoplasm, this effect is overcome by binding of STK36 to both SUFU and a GLI protein (PubMed:10559945, PubMed:10564661, PubMed:10806483, PubMed:24217340). Negative regulator of beta-catenin signaling (By similarity). Regulates the formation of either the repressor form (GLI3R) or the activator form (GLI3A) of the full-length form of GLI3 (GLI3FL) (PubMed:24311597, PubMed:28965847). GLI3FL is complexed with SUFU in the cytoplasm and is maintained in a neutral state (PubMed:24311597, PubMed:28965847). Without the Hh signal, the SUFU-GLI3 complex is recruited to cilia, leading to the efficient processing of GLI3FL into GLI3R (PubMed:24311597, PubMed:28965847). When Hh signaling is initiated, SUFU dissociates from GLI3FL and the latter translocates to the nucleus, where it is phosphorylated, destabilized, and converted to a transcriptional activator (GLI3A) (PubMed:24311597, PubMed:28965847). Required for normal embryonic development (By similarity). Required for the proper formation of hair follicles and the control of epidermal differentiation (By similarity).

Gene Wiki entry for SUFU Gene

Additional gene information for SUFU Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SUFU Gene

Genomics for SUFU Gene

GeneHancer (GH) Regulatory Elements for SUFU Gene

Promoters and enhancers for SUFU Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J102501 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 +0.5 527 5.2 FOXK2 ZBTB40 ZNF217 EP300 CTCF ZSCAN5C SIN3A NRF1 POLR2G USF1 ACTR1A SUFU MFSD13A PDCD11 PPRC1 PCGF6 RNU6-43P C10orf95 FBXL15 PSD
GH10J101828 Promoter/Enhancer 2.2 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 15.1 -671.9 -671893 4.4 ZBTB40 ZNF217 EP300 ZSCAN5C SIN3A TCF12 NRF1 SP1 ZFX ZNF639 PPRC1 LDB1 LZTS2 GBF1 MRPL43 HPS6 ENSG00000272572 NOLC1 KCNIP2-AS1 SUFU
GH10J101814 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.7 -685.8 -685765 5.9 RXRA FOXK2 ZBTB40 ZNF217 EP300 ZSCAN5C SIN3A NRF1 MYC POLR2G KCNIP2-AS1 OGA HPS6 PPRC1 MRPL43 GBF1 LDB1 TWNK SUFU NPM3
GH10J102064 Promoter/Enhancer 1.7 Ensembl ENCODE CraniofacialAtlas 15.1 -436.9 -436885 3.2 ZNF217 SIN3A NRF1 TCF12 POLR2G PHF8 CTCF ZFX ZNF10 ZIC2 HPS6 SUFU LDB1 KCNIP2 lnc-HPS6-2
GH10J101692 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 10.7 -808.5 -808485 3.2 HNRNPK ZBTB40 NRF1 TCF12 POLR2G USF1 GTF2E2 PHF8 ZFX ZNF639 ENSG00000286489 FBXW4 MRPL43 PPRC1 LDB1 GBF1 ENSG00000272572 HPS6 TWNK SUFU
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SUFU on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SUFU

Top Transcription factor binding sites by QIAGEN in the SUFU gene promoter:
  • AREB6
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • Egr-2
  • RORalpha1
  • SREBP-1c

Genomic Locations for SUFU Gene

Genomic Locations for SUFU Gene
chr10:102,502,874-102,633,535
(GRCh38/hg38)
Size:
130,662 bases
Orientation:
Plus strand
chr10:104,263,719-104,393,292
(GRCh37/hg19)
Size:
129,574 bases
Orientation:
Plus strand

Genomic View for SUFU Gene

Genes around SUFU on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SUFU Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SUFU Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SUFU Gene

Proteins for SUFU Gene

  • Protein details for SUFU Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UMX1-SUFU_HUMAN
    Recommended name:
    Suppressor of fused homolog
    Protein Accession:
    Q9UMX1
    Secondary Accessions:
    • Q7LCP7
    • Q9NT90
    • Q9NZ07
    • Q9UHK2
    • Q9UHM8
    • Q9UMY0

    Protein attributes for SUFU Gene

    Size:
    484 amino acids
    Molecular mass:
    53947 Da
    Quaternary structure:
    • May form homodimers (PubMed:10564661). Part of a DNA-bound corepressor complex containing SAP18, GLI1 and SIN3 (By similarity). Part of a complex containing CTNNB1 (By similarity). Binds BTRC, GLI2, GLI3, SAP18 and STK36 (PubMed:10564661, PubMed:10806483). Binds both free and DNA-bound GLI1 (PubMed:10559945, PubMed:15367681, PubMed:24217340, PubMed:24311597, PubMed:28965847). Interacts with KIF7 (By similarity). Interacts with GLI3FL and this interaction regulates the formation of either repressor or activator forms of GLI3 (PubMed:24311597, PubMed:28965847). Its association with GLI3FL is regulated by Hh signaling and dissociation of the SUFU-GLI3 interaction requires the presence of the ciliary motor KIF3A (PubMed:24311597, PubMed:28965847). Interacts with ULK3; inactivating the protein kinase activity of ULK3 (PubMed:20643644). Interacts with RAB23 (PubMed:22365972).
    Miscellaneous:
    • [Isoform 1]: Major isoform.

    Three dimensional structures from OCA and Proteopedia for SUFU Gene

    Alternative splice isoforms for SUFU Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SUFU Gene

Post-translational modifications for SUFU Gene

  • Polyubiquitinated at Lys-257 by the SCF(FBXL17) complex, leading to its subsequent degradation and allowing the release of GLI1 for proper hedgehog/smoothened signal transduction (PubMed:27234298). Ubiquitination is impaired by phosphorylation at Ser-342, Ser-346, Ser-352 and Thr-353 (PubMed:27234298).
  • Phosphorylation at Ser-342, Ser-346, Ser-352 and Thr-353 prevents ubiquitination by the SCF(FBXL17) complex.
  • Ubiquitination at Lys257 and Lys321
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SUFU Gene

Domains & Families for SUFU Gene

Gene Families for SUFU Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for SUFU Gene

Suggested Antigen Peptide Sequences for SUFU Gene

GenScript: Design optimal peptide antigens:
  • Suppressor of fused homolog (Drosophila) (B1AKY2_HUMAN)
  • Suppressor of fused homolog (Drosophila) (Q5JSM0_HUMAN)
  • Suppressor of fused homolog (Drosophila) (Q5JSM1_HUMAN)
  • Suppressor of fused homolog (SUFU_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UMX1

UniProtKB/Swiss-Prot:

SUFU_HUMAN :
  • Belongs to the SUFU family.
Family:
  • Belongs to the SUFU family.
genes like me logo Genes that share domains with SUFU: view

Function for SUFU Gene

Molecular function for SUFU Gene

UniProtKB/Swiss-Prot Function:
Negative regulator in the hedgehog/smoothened signaling pathway (PubMed:10559945, PubMed:10564661, PubMed:10806483, PubMed:12068298, PubMed:12975309, PubMed:27234298, PubMed:15367681, PubMed:22365972, PubMed:24217340, PubMed:24311597, PubMed:28965847). Down-regulates GLI1-mediated transactivation of target genes (PubMed:15367681, PubMed:24217340, PubMed:24311597). Down-regulates GLI2-mediated transactivation of target genes (PubMed:24311597, PubMed:24217340). Part of a corepressor complex that acts on DNA-bound GLI1. May also act by linking GLI1 to BTRC and thereby targeting GLI1 to degradation by the proteasome (PubMed:10559945, PubMed:10564661, PubMed:10806483, PubMed:24217340). Sequesters GLI1, GLI2 and GLI3 in the cytoplasm, this effect is overcome by binding of STK36 to both SUFU and a GLI protein (PubMed:10559945, PubMed:10564661, PubMed:10806483, PubMed:24217340). Negative regulator of beta-catenin signaling (By similarity). Regulates the formation of either the repressor form (GLI3R) or the activator form (GLI3A) of the full-length form of GLI3 (GLI3FL) (PubMed:24311597, PubMed:28965847). GLI3FL is complexed with SUFU in the cytoplasm and is maintained in a neutral state (PubMed:24311597, PubMed:28965847). Without the Hh signal, the SUFU-GLI3 complex is recruited to cilia, leading to the efficient processing of GLI3FL into GLI3R (PubMed:24311597, PubMed:28965847). When Hh signaling is initiated, SUFU dissociates from GLI3FL and the latter translocates to the nucleus, where it is phosphorylated, destabilized, and converted to a transcriptional activator (GLI3A) (PubMed:24311597, PubMed:28965847). Required for normal embryonic development (By similarity). Required for the proper formation of hair follicles and the control of epidermal differentiation (By similarity).

Phenotypes From GWAS Catalog for SUFU Gene

Gene Ontology (GO) - Molecular Function for SUFU Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003714 transcription corepressor activity TAS 10564661
GO:0005515 protein binding IPI,IEA 10564661
GO:0008013 beta-catenin binding IEA --
GO:0008134 transcription factor binding IDA 10564661
GO:0019901 protein kinase binding IPI 20643644
genes like me logo Genes that share ontologies with SUFU: view
genes like me logo Genes that share phenotypes with SUFU: view

Human Phenotype Ontology for SUFU Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SUFU Gene

MGI Knock Outs for SUFU:
  • Sufu Sufu<tm1Aeb>
  • Sufu Sufu<tm1b(KOMP)Wtsi>
  • Sufu Sufu<tm1Rto>
  • Sufu Sufu<tm1.1Blnw>

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SUFU Gene

Localization for SUFU Gene

Subcellular locations from UniProtKB/Swiss-Prot for SUFU Gene

Cytoplasm. Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SUFU gene
Compartment Confidence
nucleus 5
cytosol 4
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SUFU Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA,IMP 28965847
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm NAS,IBA 10564661
GO:0005829 cytosol TAS --
GO:0005929 cilium IEA --
genes like me logo Genes that share ontologies with SUFU: view

Pathways & Interactions for SUFU Gene

genes like me logo Genes that share pathways with SUFU: view

Pathways by source for SUFU Gene

3 Qiagen pathways for SUFU Gene
  • Activation of PKA through GPCR
  • Hedgehog Signaling in Mammals
  • Molecular Mechanisms of Cancer
1 Cell Signaling Technology pathway for SUFU Gene

SIGNOR curated interactions for SUFU Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for SUFU Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IDA 10564661
GO:0001501 skeletal system development TAS 10559945
GO:0001843 neural tube closure IEA --
GO:0001947 heart looping IEA --
GO:0003281 ventricular septum development IEA --
genes like me logo Genes that share ontologies with SUFU: view

Drugs & Compounds for SUFU Gene

No Compound Related Data Available

Transcripts for SUFU Gene

mRNA/cDNA for SUFU Gene

2 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SUFU Gene

No ASD Table

Relevant External Links for SUFU Gene

GeneLoc Exon Structure for
SUFU

Expression for SUFU Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SUFU Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SUFU Gene

This gene is overexpressed in Gallbladder (29.5), Testis (26.0), and Prostate (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SUFU Gene



Protein tissue co-expression partners for SUFU Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SUFU

SOURCE GeneReport for Unigene cluster for SUFU Gene:

Hs.404089

mRNA Expression by UniProt/SwissProt for SUFU Gene:

Q9UMX1-SUFU_HUMAN
Tissue specificity: Ubiquitous in adult tissues. Detected in osteoblasts of the perichondrium in the developing limb of 12-week old embryos. Isoform 1 is detected in fetal brain, lung, kidney and testis. Isoform 2 is detected in fetal testis, and at much lower levels in fetal brain, lung and kidney.

Evidence on tissue expression from TISSUES for SUFU Gene

  • Nervous system(4.7)
  • Muscle(4.3)
  • Lung(4.1)
  • Skin(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SUFU Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cranial nerve
  • ear
  • eye
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • nose
  • skull
  • tooth
Thorax:
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • intestine
  • large intestine
  • small intestine
  • stomach
Pelvis:
  • ovary
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with SUFU: view

No data available for mRNA differential expression in normal tissues for SUFU Gene

Orthologs for SUFU Gene

This gene was present in the common ancestor of animals.

Orthologs for SUFU Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SUFU 31 30
  • 99.79 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SUFU 31
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 96 (a)
OneToMany
-- 31
  • 91 (a)
OneToMany
cow
(Bos Taurus)
Mammalia SUFU 31 30
  • 93.75 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SUFU 31 30
  • 93.39 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sufu 30
  • 91.87 (n)
mouse
(Mus musculus)
Mammalia Sufu 17 31 30
  • 91.12 (n)
chicken
(Gallus gallus)
Aves SUFU 31 30
  • 82.86 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SUFU 31
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sufu 30
  • 77.78 (n)
zebrafish
(Danio rerio)
Actinopterygii sufu 30 30
  • 76.02 (n)
fruit fly
(Drosophila melanogaster)
Insecta Su(fu) 31 32 30
  • 53.09 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001948 30
  • 52.93 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9284 31
  • 63 (a)
OneToOne
Cin.2836 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2836 30
Species where no ortholog for SUFU was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SUFU Gene

ENSEMBL:
Gene Tree for SUFU (if available)
TreeFam:
Gene Tree for SUFU (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SUFU: view image

Paralogs for SUFU Gene

No data available for Paralogs for SUFU Gene

Variants for SUFU Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SUFU Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
3570 Pathogenic: Medulloblastoma, desmoplastic 102,504,294(+) C/CA FRAMESHIFT_VARIANT
3574 Pathogenic: Medulloblastoma, desmoplastic; Medulloblastoma with extensive nodularity 102,504,216(+) G/GC FRAMESHIFT_VARIANT
638517 Uncertain Significance: JOUBERT SYNDROME 32 102,549,977(+) G/A MISSENSE_VARIANT
639630 Uncertain Significance: Medulloblastoma; Gorlin syndrome 102,630,115(+) C/T MISSENSE_VARIANT
640398 Uncertain Significance: Medulloblastoma; Gorlin syndrome 102,599,501(+) A/G MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for SUFU Gene

Structural Variations from Database of Genomic Variants (DGV) for SUFU Gene

Variant ID Type Subtype PubMed ID
dgv279e212 CNV loss 25503493
dgv508n106 CNV deletion 24896259
esv2672073 CNV deletion 23128226
esv3624400 CNV loss 21293372
nsv467445 CNV loss 19166990
nsv552059 CNV loss 21841781
nsv825550 CNV loss 20364138
nsv831968 CNV gain 17160897
nsv948170 CNV duplication 23825009

Variation tolerance for SUFU Gene

Residual Variation Intolerance Score: 17.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.24; 24.78% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SUFU Gene

Human Gene Mutation Database (HGMD)
SUFU
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SUFU

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SUFU Gene

Disorders for SUFU Gene

MalaCards: The human disease database

(29) MalaCards diseases for SUFU Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
joubert syndrome 32
  • jbts32
basal cell nevus syndrome
  • bcns
medulloblastoma
  • mdb
meningioma, familial
  • meningioma, familial, susceptibility to
acrocallosal syndrome
  • acls
- elite association - COSMIC cancer census association via MalaCards
Search SUFU in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SUFU_HUMAN
  • Medulloblastoma (MDB) [MIM:155255]: Malignant, invasive embryonal tumor of the cerebellum with a preferential manifestation in children. {ECO:0000269 PubMed:12068298}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Joubert syndrome 32 (JBTS32) [MIM:617757]: A form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. JBTS32 inheritance is autosomal recessive. {ECO:0000269 PubMed:28965847}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Basal cell nevus syndrome (BCNS) [MIM:109400]: An autosomal dominant disease characterized by nevoid basal cell carcinomas and developmental abnormalities such as rib and craniofacial alterations, polydactyly, syndactyly, and spina bifida. In addition, the patients suffer from a multitude of tumors like basal cell carcinomas, fibromas of the ovaries and heart, cysts of the skin, jaws and mesentery, as well as medulloblastomas and meningiomas. {ECO:0000269 PubMed:19533801}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for SUFU

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SUFU: view

No data available for Genatlas for SUFU Gene

Publications for SUFU Gene

  1. Suppressor of fused regulates Gli activity through a dual binding mechanism. (PMID: 15367681) Merchant M … de Sauvage FJ (Molecular and cellular biology 2004) 2 3 4 23 54
  2. Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects. (PMID: 28965847) De Mori R … Valente EM (American journal of human genetics 2017) 3 4 54
  3. SCF (Fbxl17) ubiquitylation of Sufu regulates Hedgehog signaling and medulloblastoma development. (PMID: 27234298) Raducu M … D'Angiolella V (The EMBO journal 2016) 3 4 54
  4. Structural insight into the mutual recognition and regulation between Suppressor of Fused and Gli/Ci. (PMID: 24217340) Zhang Y … Wu G (Nature communications 2013) 3 4 54
  5. Structural basis of SUFU-GLI interaction in human Hedgehog signalling regulation. (PMID: 24311597) Cherry AL … Toftgård R (Acta crystallographica. Section D, Biological crystallography 2013) 3 4 54

Products for SUFU Gene

Sources for SUFU Gene